Variant report

Variant	rs2377313
Chromosome Location	chr1:226537368-226537369
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:226296926..226299854-chr1:226536011..226537716,2	K562	blood:
2	chr1:226310111..226312814-chr1:226537191..226539857,2	MCF-7	breast:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1805414	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2027439	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2048424	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2666428	0.80[AMR][1000 genomes]
rs2793380	0.80[AMR][1000 genomes]
rs2793382	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2793657	0.80[AMR][1000 genomes]
rs3219090	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3219112	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3219119	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3754376	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs747657	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832770	chr1:226465130-226655512	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226521400-226541000	Weak transcription	Right Atrium	heart
2	chr1:226529800-226537400	Weak transcription	K562	blood
3	chr1:226533800-226543600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr1:226535600-226537600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr1:226535800-226537800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr1:226535800-226537800	Enhancers	Duodenum Mucosa	Duodenum
7	chr1:226535800-226540200	Enhancers	Primary hematopoietic stem cells	blood
8	chr1:226536400-226537400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr1:226536400-226538000	Enhancers	GM12878-XiMat	blood
10	chr1:226536400-226541200	Enhancers	Fetal Intestine Large	intestine
11	chr1:226536600-226537800	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr1:226536600-226538000	Enhancers	Fetal Intestine Small	intestine
13	chr1:226536600-226538800	Enhancers	Primary B cells from peripheral blood	blood
14	chr1:226536600-226538800	Enhancers	Stomach Mucosa	stomach
15	chr1:226536800-226538000	Enhancers	Colonic Mucosa	Colon
16	chr1:226536800-226538400	Enhancers	Fetal Stomach	stomach
17	chr1:226536800-226538600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr1:226536800-226538600	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr1:226536800-226538600	Enhancers	Fetal Muscle Trunk	muscle
20	chr1:226536800-226538600	Enhancers	Ovary	ovary
21	chr1:226537000-226537600	Weak transcription	Spleen	Spleen
22	chr1:226537000-226538200	Weak transcription	Small Intestine	intestine
23	chr1:226537000-226538400	Enhancers	Placenta	Placenta
24	chr1:226537000-226538600	Enhancers	Fetal Muscle Leg	muscle
25	chr1:226537000-226542800	Weak transcription	Lung	lung
26	chr1:226537000-226543400	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr1:226537000-226549200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr1:226537200-226537600	Weak transcription	Fetal Kidney	kidney
29	chr1:226537200-226537600	Enhancers	HepG2	liver
30	chr1:226537200-226538400	Enhancers	Primary B cells from cord blood	blood
31	chr1:226537200-226541800	Weak transcription	HUES6 Cell Line	embryonic stem cell

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